نتایج جستجو برای: pseudohypoaldosteronism type 1
تعداد نتایج: 3647227 فیلتر نتایج به سال:
With-no-lysine (WNK) kinases are a novel family of protein kinases characterized by an atypical placement of the catalytic lysine. Mutations of 2 family members, WNK1 and WNK4, cause pseudohypoaldosteronism type 2 (PHA2), an autosomal-dominant disease characterized by hypertension and hyperkalemia. WNK1 and WNK4 stimulate clathrin-dependent endocytosis of renal outer medullar potassium 1 (ROMK1...
Mutations in a recently discovered family of protein kinases are responsible for an autosomal-dominant form of inherited hypertension, known as Gordon’s syndrome or pseudohypoaldosteronism type II (PHAII).1 The phenotype also includes hyperkalemia and hyperchloremic metabolic acidosis.1 The name of this kinase family is WNK (with no lysine [K]) because of the absence of a lysine in subdomain II...
Mendelian hypertension is rare; however, Mendelian syndromes have taught us an amazing amount about mechanisms of distal sodium and chloride reabsorption, as well as how systemic hypertension might come about. In this issue of EMBO Molecular Medicine, Schumacher et al (2015) present a mouse model of the Cullin-3 (CUL3D403–459) mutation, which causes a form of pseudohypoaldosteronism type-2 (PHA...
reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page
The R1185C mutation in WNK4 is associated with pseudohypoaldosteronism type II (PHAII). Unlike other PHAII-causing mutations in the acidic motif, the R1185C mutation is located in the COOH-terminal region of WNK4. The goal of the study is to determine what properties of WNK4 are disrupted by the R1185C mutation. We found that the R1185C mutation is situated in the middle of a calmodulin (CaM) b...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید